A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2717827



Internal ID9952118
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:1148810..1149116hg38UCSC Ensembl
Outerchr19:1148809..1149115hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg38307
hg19307
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6871441, essv6858670, essv6914318, essv6824614, essv6917067, essv6873942, essv6792874
SamplesSSM090, SSM016, SSM011, SSM002, SSM087, SSM079, SSM070
Known GenesSBNO2
MethodSequencing
AnalysisBreakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads
PlatformIllumina HiSeq 2000
Comments
ReferenceWong_et_al_2012b
Pubmed ID23290073
Accession Number(s)esv2717827
Frequency
Sample Size96
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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